Varaico: Literature-Extracted Genetic Variants

DAG1

433 papers

RefSeq Summary

This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein underg...

Pfam Domains

He_PIGaa 61–156UCSCPutative Ig domain

a_DG1_N2aa 182–304UCSCAlpha-Dystroglycan N-terminal domain 2

DAG1aa 606–895UCSCDystroglycan (Dystrophin-associated glycoprotein 1)

Gene Aliases

HGNC Name

dystroglycan 1

HGNC Alias Symbols

A3a; 156DAG; AGRNR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004393.6

p.P810S

c.2428C>T

Surrounding Variants

1 paper

NM_004393.6

p.Q820*

c.2458C>T

1 paper

NM_004393.6

p.K823N

c.2469G>C

1 paper

NM_004393.6

p.K823N

c.2469G>T

1 paper

NM_004393.6

p.P827S

c.2479C>T

1 paper

NM_004393.6

p.T784T

c.2352C>T

1 paper

NM_004393.6

p.R779Q

c.2336G>A

1 paper

NM_004393.6

p.K777E

c.2329A>G

1 paper

NM_004393.6

p.R776H

c.2327G>A

6 papers

NM_004393.6

p.R776C

c.2326C>T

1 paper

NM_004393.6

p.C774R

c.2320T>C

1 paper

NM_004393.6

p.C774G

c.2320T>G

1 paper

NM_004393.6

p.H752H

c.2256C>T